Canonical Allele Identifier: CA049519

Gene: LMNA

Linked Data

• ClinVar Variation Id: 698186
• ClinVar RCV Id: RCV000865471 ; RCV001100367 ; RCV001100368 ; RCV001100369 ; RCV001100370 ; RCV001102348 ; RCV001102349 ; RCV001102350 ; RCV001102351 ; RCV001102352 ; RCV001102353 ; RCV001191849 ; RCV001700317 ; RCV001726349 ; RCV003307601
• dbSNP Id: rs762130433
• ExAC: 1:156106074 A / G
• gnomAD v2: 1-156106074-A-G
• gnomAD v3: 1-156136283-A-G
• gnomAD v4: 1-156136283-A-G
• MyVariant Identifiers: chr1:g.156106074A>G (hg19) ; chr1:g.156136283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156136283A>G , CM000663.2:g.156136283A>G	GRCh38
NC_000001.10:g.156106074A>G , CM000663.1:g.156106074A>G	GRCh37
NC_000001.9:g.154372698A>G	NCBI36
NG_008692.2:g.58711A>G , LRG_254:g.58711A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.669A>G	ENSP00000426535.3:p.Thr223=
ENST00000498722.3:n.459A>G
ENST00000682650.1:c.1227A>G	ENSP00000506904.1:p.Thr409=
ENST00000683032.1:c.1227A>G	ENSP00000506771.1:p.Thr409=
ENST00000684195.1:c.1227A>G	ENSP00000508220.1:p.Thr409=
ENST00000361308.9:c.1227A>G	ENSP00000355292.6:p.Thr409=
ENST00000368300.9:c.1227A>G MANE Select	ENSP00000357283.4:p.Thr409=
ENST00000496738.6:n.1602A>G
ENST00000674518.1:c.*577A>G	ENSP00000502261.1:n.*577A>G
ENST00000674600.1:c.*1026A>G	ENSP00000501666.1:n.*1026A>G
ENST00000674720.1:c.1227A>G	ENSP00000502798.1:p.Thr409=
ENST00000675431.1:n.920A>G
ENST00000675455.1:c.*1027A>G	ENSP00000501795.1:n.*1027A>G
ENST00000675667.1:c.1227A>G	ENSP00000501803.1:p.Thr409=
ENST00000675874.1:c.*698A>G	ENSP00000501851.1:n.*698A>G
ENST00000675881.1:c.*238A>G	ENSP00000501670.1:n.*238A>G
ENST00000675939.1:c.1227A>G	ENSP00000502256.1:p.Thr409=
ENST00000675989.1:n.1602A>G
ENST00000676208.1:c.*330A>G	ENSP00000502468.1:n.*330A>G
ENST00000676283.1:n.1602A>G
ENST00000676385.2:c.1227A>G	ENSP00000502091.1:p.Thr409=
ENST00000676434.1:c.*238A>G	ENSP00000501648.1:n.*238A>G
ENST00000677389.1:c.1227A>G MANE Plus Clinical	ENSP00000503633.1:p.Thr409=
ENST00000347559.6:c.1227A>G	ENSP00000292304.3:p.Thr409=
ENST00000361308.8:c.1227A>G	ENSP00000355292.5:p.Thr409=
ENST00000368297.5:c.984A>G	ENSP00000357280.1:p.Thr328=
ENST00000368298.2:n.491A>G
ENST00000368299.7:c.1227A>G	ENSP00000357282.3:p.Thr409=
ENST00000368300.8:c.1227A>G	ENSP00000357283.4:p.Thr409=
ENST00000368301.6:c.1227A>G	ENSP00000357284.2:p.Thr409=
ENST00000448611.6:c.891A>G	ENSP00000395597.2:p.Thr297=
ENST00000473598.6:c.930A>G	ENSP00000421821.1:p.Thr310=
ENST00000496738.5:n.612A>G
ENST00000498722.2:n.459A>G
ENST00000508500.1:c.105A>G	ENSP00000424977.1:p.Thr35=
NM_001257374.2:c.891A>G	NP_001244303.1:p.Thr297=
NM_001282624.1:c.984A>G	NP_001269553.1:p.Thr328=
NM_001282625.1:c.1227A>G	NP_001269554.1:p.Thr409=
NM_001282626.1:c.1227A>G	NP_001269555.1:p.Thr409=
NM_005572.3:c.1227A>G , LRG_254t1:c.1227A>G	NP_005563.1:p.Thr409=
NM_170707.3:c.1227A>G	NP_733821.1:p.Thr409=
NM_170708.3:c.1227A>G	NP_733822.1:p.Thr409=
XM_011509533.1:c.891A>G	XP_011507835.1:p.Thr297=
XM_011509534.1:c.603A>G	XP_011507836.1:p.Thr201=
XR_921781.1:n.1516A>G
XM_011509534.2:c.603A>G	XP_011507836.1:p.Thr201=
XR_921781.2:n.1514A>G
NM_170707.4:c.1227A>G MANE Select	NP_733821.1:p.Thr409=
NM_001257374.3:c.891A>G	NP_001244303.1:p.Thr297=
NM_001282626.2:c.1227A>G	NP_001269555.1:p.Thr409=
NM_001282624.2:c.984A>G	NP_001269553.1:p.Thr328=
NM_001282625.2:c.1227A>G	NP_001269554.1:p.Thr409=
NM_005572.4:c.1227A>G MANE Plus Clinical	NP_005563.1:p.Thr409=
NM_170708.4:c.1227A>G	NP_733822.1:p.Thr409=